Product Details

SNP ID

rs3748937

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:152719492 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCGCATAGTCCAAATTTCTTCTTT[C/T]ATAGGTAAAATAATTAGCCTCTCAG

Phenotype

MIM: 616495 MIM: 612941

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARL6IP6 PubMed Links

Gene Details

Gene

ARL6IP6

Gene Name

ADP ribosylation factor like GTPase 6 interacting protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152522.5	564	Intron			NP_689735.1
XM_006712326.3	564	Silent Mutation	TTC,TTT	F36F	XP_006712389.1

Gene

PRPF40A

Gene Name

pre-mRNA processing factor 40 homolog A

There are no transcripts associated with this gene.

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